Biomaterial Database

[Tuberous sclerosis: an interdisciplinary diagnosis]. 2007

B Voykov, and E Guenova, and D Süsskind, and U Schiefer

Department für Augenheilkunde, Universitätsklinik Tübingen. bogomil.voykov@gmail.com

BACKGROUND Tuberous sclerosis is a relatively rare disease, but it often takes a progressive and severe course. We wish to demonstrate the typical changes in a patient with tuberous sclerosis and their relevance for the ophthalmologist. RESULTS Ophthalmologic evaluation including funduscopy, 30 degree perimetry and fundus photography and clinical course of a 40-year-old man are described. We observed an elevated, multinodular, opaque hamartoma resembling mulberries, approximately (1/3)-(1/2) PD large, at the temporal superior arc with corresponding visual field defects. CONCLUSIONS An ophthalmologist should always think of a tuberous sclerosis as a differential diagnosis when confronted with a retinal hamartoma. Other characteristic ophthalmological findings include facial and eyelid angiofibromas, coloboma of the iris, lens and choroid, strabismus, poliosis of the eyelashes, papilloedema and sector iris depigmentation. Clinical diagnosis of tuberous sclerosis is in most cases relatively easy; however, an interdisciplinary cooperation is needed.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010348	Patient Care Team	Care of patients by a multidisciplinary team usually organized under the leadership of a physician; each member of the team has specific responsibilities and the whole team contributes to the care of the patient.	Health Care Team,Interdisciplinary Health Team,Medical Care Team,Multidisciplinary Care Team,Multidisciplinary Health Team,Healthcare Team,Care Team, Health,Care Team, Medical,Care Team, Multidisciplinary,Care Team, Patient,Care Teams, Health,Care Teams, Patient,Health Care Teams,Health Team, Interdisciplinary,Health Team, Multidisciplinary,Healthcare Teams,Interdisciplinary Health Teams,Medical Care Teams,Multidisciplinary Care Teams,Multidisciplinary Health Teams,Patient Care Teams,Team, Health Care,Team, Healthcare,Team, Interdisciplinary Health,Team, Medical Care,Team, Multidisciplinary Care,Team, Multidisciplinary Health,Team, Patient Care,Teams, Interdisciplinary Health
D012164	Retinal Diseases	Diseases involving the RETINA.	Disease, Retinal,Diseases, Retinal,Retinal Disease
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006223	Hamartoma Syndrome, Multiple	A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.	Bannayan-Riley-Ruvalcaba Syndrome,Cowden Disease,Cowden's Disease,Lhermitte-Duclos Disease,Multiple Hamartoma Syndrome,PTEN Hamartoma Tumor Syndrome,Bannayan-Ruvalcaba-Riley Syndrome,Bannayan-Zonana Syndrome,Cowden Syndrome,Cowden's Syndrome,Dysplastic Gangliocytoma of Cerebellum,Dysplastic Gangliocytoma of the Cerebellum,Macrocephaly, Multiple Lipomas, and Hemangiomata,Macrocephaly, Pseudopapilledema, and Multiple Hemangiomas,Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata,Myhre-Riley-Smith Syndrome,Riley-Smith Syndrome,Ruvalcaba-Myhre Syndrome,Ruvalcaba-Myhre-Smith Syndrome,Bannayan Riley Ruvalcaba Syndrome,Bannayan Zonana Syndrome,Cerebellum Dysplastic Gangliocytoma,Cerebellum Dysplastic Gangliocytomas,Cowdens Disease,Cowdens Syndrome,Hamartoma Syndromes, Multiple,Lhermitte Duclos Disease,Multiple Hamartoma Syndromes,Myhre Riley Smith Syndrome,Riley Smith Syndrome,Ruvalcaba Myhre Smith Syndrome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D014402	Tuberous Sclerosis	Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.	Bourneville Disease,Epiloia,Phakomatosis, Bourneville,Adenoma Sebaceum,Bourneville Phakomatosis,Bourneville Syndrome,Bourneville's Disease,Bourneville's Syndrome,Bourneville-Pringle Disease,Bourneville-Pringle's Disease,Cerebral Sclerosis,Phacomatosis, Bourneville,Sclerosis Tuberosa,Tuberose Sclerosis,Tuberous Sclerosis Complex,Bourneville Phacomatosis,Bourneville Pringle Disease,Bourneville Pringle's Disease,Bourneville-Pringles Disease,Cerebral Scleroses,Disease, Bourneville-Pringle,Disease, Bourneville-Pringle's,Sclerosis, Cerebral,Sclerosis, Tuberose,Sclerosis, Tuberous,Syndrome, Bourneville,Syndrome, Bourneville's